Canonical Allele Identifier: CA2190327515
Gene: FAH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.80152851A= , CM000677.2:g.80152851A= GRCh38
NC_000015.9:g.80445193A= , CM000677.1:g.80445193A= GRCh37
NC_000015.8:g.78232248A= NCBI36
NG_012833.1:g.4853A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000558767.6:c.-204A= ENSP00000507680.1:n.-204A=
ENST00000261755.9:c.-30+10A= ENSP00000261755.5:n.-30+10A=
ENST00000407106.5:c.-84A= ENSP00000385080.1:n.-84A=
ENST00000537726.5:n.53+10A=
ENST00000558022.5:c.-29-175A= ENSP00000453152.1:n.-29-175A=
ENST00000558767.5:n.58A=
XM_024449872.1:c.-84A= XP_024305640.1:n.-84A=
NM_001374377.1:c.-84A= NP_001361306.1:n.-84A=
NM_001374380.1:c.-30+10A= NP_001361309.1:n.-30+10A=